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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

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Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. / Lu, Yi; Vitart, Veronique; Burdon, Kathryn P; Khor, Chiea Chuen; Bykhovskaya, Yelena; Mirshahi, Alireza; Hewitt, Alex W; Koehn, Demelza; Hysi, Pirro G; Ramdas, Wishal D; Zeller, Tanja; Vithana, Eranga N; Cornes, Belinda K; Tay, Wan-Ting; Tai, E Shyong; Cheng, Ching-Yu; Liu, Jianjun; Foo, Jia-Nee; Saw, Seang Mei; Thorleifsson, Gudmar; Stefansson, Kari; Dimasi, David P; Mills, Richard A; Mountain, Jenny; Ang, Wei; Hoehn, René; Verhoeven, Virginie J M; Grus, Franz; Wolfs, Roger; Castagne, Raphaële; Lackner, Karl J; Springelkamp, Henriët; Yang, Jian; Jonasson, Fridbert; Leung, Dexter Y L; Chen, Li J; Tham, Clement C Y; Rudan, Igor; Vatavuk, Zoran; Hayward, Caroline; Gibson, Jane; Cree, Angela J; MacLeod, Alex; Ennis, Sarah; Polasek, Ozren; Campbell, Harry; Wilson, James F; Viswanathan, Ananth C; Fleck, Brian; Li, Xiaohui; Siscovick, David; Taylor, Kent D; Rotter, Jerome I; Yazar, Seyhan; Ulmer, Megan; Li, Jun; Yaspan, Brian L; Ozel, Ayse B; Richards, Julia E; Moroi, Sayoko E; Haines, Jonathan L; Kang, Jae H; Pasquale, Louis R; Allingham, R Rand; Ashley-Koch, Allison; Mitchell, Paul; Wang, Jie Jin; Wright, Alan F; Pennell, Craig; Spector, Timothy D; Young, Terri L; Klaver, Caroline C W; Martin, Nicholas G; Montgomery, Grant W; Anderson, Michael G; Aung, Tin; Willoughby, Colin E; Wiggs, Janey L; Pang, Chi P; Thorsteinsdottir, Unnur; Lotery, Andrew J; Hammond, Christopher J; van Duijn, Cornelia M; Hauser, Michael A; Rabinowitz, Yaron S; Pfeiffer, Norbert; Mackey, David A; Craig, Jamie E; Macgregor, Stuart; Wong, Tien Y; NEIGHBOR Consortium.

in: NAT GENET, Jahrgang 45, Nr. 2, 02.2013, S. 155-163.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Lu, Y, Vitart, V, Burdon, KP, Khor, CC, Bykhovskaya, Y, Mirshahi, A, Hewitt, AW, Koehn, D, Hysi, PG, Ramdas, WD, Zeller, T, Vithana, EN, Cornes, BK, Tay, W-T, Tai, ES, Cheng, C-Y, Liu, J, Foo, J-N, Saw, SM, Thorleifsson, G, Stefansson, K, Dimasi, DP, Mills, RA, Mountain, J, Ang, W, Hoehn, R, Verhoeven, VJM, Grus, F, Wolfs, R, Castagne, R, Lackner, KJ, Springelkamp, H, Yang, J, Jonasson, F, Leung, DYL, Chen, LJ, Tham, CCY, Rudan, I, Vatavuk, Z, Hayward, C, Gibson, J, Cree, AJ, MacLeod, A, Ennis, S, Polasek, O, Campbell, H, Wilson, JF, Viswanathan, AC, Fleck, B, Li, X, Siscovick, D, Taylor, KD, Rotter, JI, Yazar, S, Ulmer, M, Li, J, Yaspan, BL, Ozel, AB, Richards, JE, Moroi, SE, Haines, JL, Kang, JH, Pasquale, LR, Allingham, RR, Ashley-Koch, A, Mitchell, P, Wang, JJ, Wright, AF, Pennell, C, Spector, TD, Young, TL, Klaver, CCW, Martin, NG, Montgomery, GW, Anderson, MG, Aung, T, Willoughby, CE, Wiggs, JL, Pang, CP, Thorsteinsdottir, U, Lotery, AJ, Hammond, CJ, van Duijn, CM, Hauser, MA, Rabinowitz, YS, Pfeiffer, N, Mackey, DA, Craig, JE, Macgregor, S, Wong, TY & NEIGHBOR Consortium 2013, 'Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus', NAT GENET, Jg. 45, Nr. 2, S. 155-163. https://doi.org/10.1038/ng.2506

APA

Lu, Y., Vitart, V., Burdon, K. P., Khor, C. C., Bykhovskaya, Y., Mirshahi, A., Hewitt, A. W., Koehn, D., Hysi, P. G., Ramdas, W. D., Zeller, T., Vithana, E. N., Cornes, B. K., Tay, W-T., Tai, E. S., Cheng, C-Y., Liu, J., Foo, J-N., Saw, S. M., ... NEIGHBOR Consortium (2013). Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. NAT GENET, 45(2), 155-163. https://doi.org/10.1038/ng.2506

Vancouver

Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A et al. Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. NAT GENET. 2013 Feb;45(2):155-163. https://doi.org/10.1038/ng.2506

Bibtex

@article{9fd381be69c345cf873ebb5a048c8484,
title = "Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus",
abstract = "Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10(-8)). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT.",
keywords = "Asian Continental Ancestry Group/genetics, Cornea/anatomy & histology, Corneal Pachymetry, European Continental Ancestry Group/genetics, Fibronectins/genetics, Forkhead Box Protein O1, Forkhead Transcription Factors/genetics, Genetic Loci/genetics, Genome-Wide Association Study, Glaucoma/genetics, Humans, Keratoconus/genetics, Microarray Analysis, Odds Ratio, Real-Time Polymerase Chain Reaction",
author = "Yi Lu and Veronique Vitart and Burdon, {Kathryn P} and Khor, {Chiea Chuen} and Yelena Bykhovskaya and Alireza Mirshahi and Hewitt, {Alex W} and Demelza Koehn and Hysi, {Pirro G} and Ramdas, {Wishal D} and Tanja Zeller and Vithana, {Eranga N} and Cornes, {Belinda K} and Wan-Ting Tay and Tai, {E Shyong} and Ching-Yu Cheng and Jianjun Liu and Jia-Nee Foo and Saw, {Seang Mei} and Gudmar Thorleifsson and Kari Stefansson and Dimasi, {David P} and Mills, {Richard A} and Jenny Mountain and Wei Ang and Ren{\'e} Hoehn and Verhoeven, {Virginie J M} and Franz Grus and Roger Wolfs and Rapha{\"e}le Castagne and Lackner, {Karl J} and Henri{\"e}t Springelkamp and Jian Yang and Fridbert Jonasson and Leung, {Dexter Y L} and Chen, {Li J} and Tham, {Clement C Y} and Igor Rudan and Zoran Vatavuk and Caroline Hayward and Jane Gibson and Cree, {Angela J} and Alex MacLeod and Sarah Ennis and Ozren Polasek and Harry Campbell and Wilson, {James F} and Viswanathan, {Ananth C} and Brian Fleck and Xiaohui Li and David Siscovick and Taylor, {Kent D} and Rotter, {Jerome I} and Seyhan Yazar and Megan Ulmer and Jun Li and Yaspan, {Brian L} and Ozel, {Ayse B} and Richards, {Julia E} and Moroi, {Sayoko E} and Haines, {Jonathan L} and Kang, {Jae H} and Pasquale, {Louis R} and Allingham, {R Rand} and Allison Ashley-Koch and Paul Mitchell and Wang, {Jie Jin} and Wright, {Alan F} and Craig Pennell and Spector, {Timothy D} and Young, {Terri L} and Klaver, {Caroline C W} and Martin, {Nicholas G} and Montgomery, {Grant W} and Anderson, {Michael G} and Tin Aung and Willoughby, {Colin E} and Wiggs, {Janey L} and Pang, {Chi P} and Unnur Thorsteinsdottir and Lotery, {Andrew J} and Hammond, {Christopher J} and {van Duijn}, {Cornelia M} and Hauser, {Michael A} and Rabinowitz, {Yaron S} and Norbert Pfeiffer and Mackey, {David A} and Craig, {Jamie E} and Stuart Macgregor and Wong, {Tien Y} and {NEIGHBOR Consortium}",
year = "2013",
month = feb,
doi = "10.1038/ng.2506",
language = "English",
volume = "45",
pages = "155--163",
journal = "NAT GENET",
issn = "1061-4036",
publisher = "NATURE PUBLISHING GROUP",
number = "2",

}

RIS

TY - JOUR

T1 - Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

AU - Lu, Yi

AU - Vitart, Veronique

AU - Burdon, Kathryn P

AU - Khor, Chiea Chuen

AU - Bykhovskaya, Yelena

AU - Mirshahi, Alireza

AU - Hewitt, Alex W

AU - Koehn, Demelza

AU - Hysi, Pirro G

AU - Ramdas, Wishal D

AU - Zeller, Tanja

AU - Vithana, Eranga N

AU - Cornes, Belinda K

AU - Tay, Wan-Ting

AU - Tai, E Shyong

AU - Cheng, Ching-Yu

AU - Liu, Jianjun

AU - Foo, Jia-Nee

AU - Saw, Seang Mei

AU - Thorleifsson, Gudmar

AU - Stefansson, Kari

AU - Dimasi, David P

AU - Mills, Richard A

AU - Mountain, Jenny

AU - Ang, Wei

AU - Hoehn, René

AU - Verhoeven, Virginie J M

AU - Grus, Franz

AU - Wolfs, Roger

AU - Castagne, Raphaële

AU - Lackner, Karl J

AU - Springelkamp, Henriët

AU - Yang, Jian

AU - Jonasson, Fridbert

AU - Leung, Dexter Y L

AU - Chen, Li J

AU - Tham, Clement C Y

AU - Rudan, Igor

AU - Vatavuk, Zoran

AU - Hayward, Caroline

AU - Gibson, Jane

AU - Cree, Angela J

AU - MacLeod, Alex

AU - Ennis, Sarah

AU - Polasek, Ozren

AU - Campbell, Harry

AU - Wilson, James F

AU - Viswanathan, Ananth C

AU - Fleck, Brian

AU - Li, Xiaohui

AU - Siscovick, David

AU - Taylor, Kent D

AU - Rotter, Jerome I

AU - Yazar, Seyhan

AU - Ulmer, Megan

AU - Li, Jun

AU - Yaspan, Brian L

AU - Ozel, Ayse B

AU - Richards, Julia E

AU - Moroi, Sayoko E

AU - Haines, Jonathan L

AU - Kang, Jae H

AU - Pasquale, Louis R

AU - Allingham, R Rand

AU - Ashley-Koch, Allison

AU - Mitchell, Paul

AU - Wang, Jie Jin

AU - Wright, Alan F

AU - Pennell, Craig

AU - Spector, Timothy D

AU - Young, Terri L

AU - Klaver, Caroline C W

AU - Martin, Nicholas G

AU - Montgomery, Grant W

AU - Anderson, Michael G

AU - Aung, Tin

AU - Willoughby, Colin E

AU - Wiggs, Janey L

AU - Pang, Chi P

AU - Thorsteinsdottir, Unnur

AU - Lotery, Andrew J

AU - Hammond, Christopher J

AU - van Duijn, Cornelia M

AU - Hauser, Michael A

AU - Rabinowitz, Yaron S

AU - Pfeiffer, Norbert

AU - Mackey, David A

AU - Craig, Jamie E

AU - Macgregor, Stuart

AU - Wong, Tien Y

AU - NEIGHBOR Consortium

PY - 2013/2

Y1 - 2013/2

N2 - Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10(-8)). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT.

AB - Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide significance (P < 5 × 10(-8)). We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)). FNDC3B was also associated with primary open-angle glaucoma (P = 5.6 × 10(-4); tested in 3 cohorts with 2,979 cases and 7,399 controls). Further analyses implicate the collagen and extracellular matrix pathways in the regulation of CCT.

KW - Asian Continental Ancestry Group/genetics

KW - Cornea/anatomy & histology

KW - Corneal Pachymetry

KW - European Continental Ancestry Group/genetics

KW - Fibronectins/genetics

KW - Forkhead Box Protein O1

KW - Forkhead Transcription Factors/genetics

KW - Genetic Loci/genetics

KW - Genome-Wide Association Study

KW - Glaucoma/genetics

KW - Humans

KW - Keratoconus/genetics

KW - Microarray Analysis

KW - Odds Ratio

KW - Real-Time Polymerase Chain Reaction

U2 - 10.1038/ng.2506

DO - 10.1038/ng.2506

M3 - SCORING: Journal article

C2 - 23291589

VL - 45

SP - 155

EP - 163

JO - NAT GENET

JF - NAT GENET

SN - 1061-4036

IS - 2

ER -